Mucopolysaccharidosis type IX

Definition:

Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase.

References:

[1]. B Triggs-Raine, et al. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6296-300. [Content Brief]

[2]. Dianna C Martin, et al. A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis. Hum Mol Genet. 2008 Jul 1;17(13):1904-15. [Content Brief]

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